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Article

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.

Genes - 30 Apr 2023

Sharkia Rajech, Jain Sahil, Mahajnah Muhammad, Habib Clair, Azem Abdussalam, Al-Shareef Wasif, Zalan Abdelnaser

Abstract excerpt

Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the PTRH2 gene have been suggested to cause a rare autosomal recessive disorder characterized by an infantile-onset multisystem neurologic endocrine and pancreatic disease (IMNEPD). Patients with IMNEPD present varying clinical manifestations, including global developmental delay associated...

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Identifiers

PMID: 37239392
DOI: 10.3390/genes14051031
PMCID: PMC10217894

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